A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia

被引：63

作者：

Goizet, C

Ben Yaou, R

Demay, L

Richard, P

Bouillot, S

Rouanet, M

Hermosilla, E

Le Masson, G

Lagueny, A

Bonne, G

Ferrer, X

机构：

[1] CHU Pellegrin, Serv Neurol, F-33076 Bordeaux, France

[2] GH Pitie Salpetriere, Inst Myol, INSERM, U582, Paris, France

[3] Assistance Publ Hop Paris, GH Pitie Salpetriere, Serv Biochim B, UF Cardiogenet & Myogenet, Paris, France

[4] CHU Pellegrin, Anat Pathol Lab, Bordeaux, France

[5] CHU Pellegrin, Serv Explorat Fonct Syst, Bordeaux, France

[6] Hop Haut Leveque, Serv Neurol, Pessac, France

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 03期

关键词：

D O I：

10.1136/jmg.2003.013383

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：5

共 29 条

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